Variant report

Variant	rs1752388
Chromosome Location	chr1:151282841-151282842
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr1:151282479-151282865	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAZ	chr1:151281875-151283136	IMR90	lung:	n/a	n/a
3	RCOR1	chr1:151281991-151283169	IMR90	lung:	n/a	n/a

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	1:151171193-151178589..1:151270864-151283078	K562	blood:
2	chr1:151282615..151286136-chr1:151341048..151343898,3	K562	blood:
3	chr1:151277597..151281624-chr1:151282449..151285197,4	K562	blood:
4	chr1:151256587..151260574-chr1:151281324..151285332,4	MCF-7	breast:
5	chr1:151251758..151256634-chr1:151282243..151286452,9	K562	blood:
6	chr1:151257052..151260597-chr1:151281879..151285124,3	K562	blood:
7	chr1:151252187..151256441-chr1:151280113..151285472,8	MCF-7	breast:
8	chr1:151281649..151290428-chr1:151296694..151302315,21	MCF-7	breast:
9	chr1:151279180..151282916-chr1:151286769..151288815,3	MCF-7	breast:
10	chr1:151282656..151285625-chr1:151441410..151443712,3	MCF-7	breast:
11	chr1:151257199..151260205-chr1:151281571..151283961,3	MCF-7	breast:
12	chr1:151281469..151284307-chr1:151318229..151320963,3	MCF-7	breast:
13	chr1:151281037..151283051-chr1:151312631..151314939,2	K562	blood:
14	chr1:151282686..151284396-chr1:151343692..151345258,2	MCF-7	breast:
15	chr1:151273498..151277392-chr1:151280205..151285145,5	K562	blood:
16	chr1:151225700..151227284-chr1:151281639..151283982,2	K562	blood:
17	chr1:151279067..151281953-chr1:151282751..151285197,3	K562	blood:
18	chr1:151029555..151032227-chr1:151282162..151284452,2	MCF-7	breast:

No data

Variant related genes	Relation type
PI4KB	TF binding region
ENSG00000224645	Chromatin interaction
ENSG00000232671	Chromatin interaction
ENSG00000143416	Chromatin interaction
ENSG00000143398	Chromatin interaction
ENSG00000143373	Chromatin interaction
ENSG00000143390	Chromatin interaction
ENSG00000273481	Chromatin interaction
ENSG00000237976	Chromatin interaction
ENSG00000213190	Chromatin interaction
ENSG00000197622	Chromatin interaction
ENSG00000159352	Chromatin interaction
ENSG00000143393	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11204782	1.00[CHB][hapmap]
rs11577302	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap]
rs11807526	0.85[CHB][hapmap]
rs12087892	0.85[CHB][hapmap]
rs12739070	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12739135	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12743210	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1621016	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs16833107	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1752382	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1780586	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1972348	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2298265	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2769275	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35118469	1.00[ASW][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs35485741	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35507974	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35778855	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35946639	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3748545	1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.90[MEX][hapmap];0.90[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59912932	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
2	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
3	esv2754960	chr1:151240542-151331304	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	esv34461	chr1:151240542-151411635	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
5	esv2753774	chr1:151240542-151411635	Genic enhancers Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151257200-151283000	Strong transcription	Primary T helper cells fromperipheralblood	blood
2	chr1:151257200-151297600	Strong transcription	Dnd41	blood
3	chr1:151257400-151283600	Strong transcription	Rectal Mucosa Donor 31	rectum
4	chr1:151257600-151293600	Strong transcription	Brain Germinal Matrix	brain
5	chr1:151258000-151283200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr1:151258000-151283600	Strong transcription	Lung	lung
7	chr1:151258200-151297200	Strong transcription	Primary B cells from peripheral blood	blood
8	chr1:151258400-151283000	Strong transcription	Colonic Mucosa	Colon
9	chr1:151258400-151293400	Strong transcription	Fetal Brain Female	brain
10	chr1:151258400-151297800	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr1:151260000-151298000	Strong transcription	Thymus	Thymus
12	chr1:151261600-151283400	Strong transcription	Spleen	Spleen
13	chr1:151261600-151297800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr1:151262000-151298000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:151262400-151283400	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr1:151262400-151283600	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr1:151262400-151283800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr1:151262600-151284400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr1:151262600-151297600	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr1:151262800-151283400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:151262800-151283600	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr1:151265800-151298000	Strong transcription	Fetal Thymus	thymus
23	chr1:151266200-151284400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr1:151266400-151283800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr1:151268200-151283000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr1:151269200-151283400	Strong transcription	NHEK	skin
27	chr1:151270600-151289400	Strong transcription	GM12878-XiMat	blood
28	chr1:151271400-151298800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr1:151273200-151283600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr1:151273200-151298000	Strong transcription	Primary T cells from cord blood	blood
31	chr1:151273800-151297800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr1:151274000-151283600	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr1:151274000-151283600	Strong transcription	HUVEC	blood vessel
34	chr1:151274400-151295000	Strong transcription	Primary B cells from cord blood	blood
35	chr1:151274600-151288800	Strong transcription	Primary hematopoietic stem cells	blood
36	chr1:151277800-151283200	Strong transcription	Hela-S3	cervix
37	chr1:151279200-151283000	Weak transcription	Fetal Brain Male	brain
38	chr1:151280200-151299200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr1:151280400-151299000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr1:151280600-151285600	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr1:151280800-151283200	Weak transcription	Stomach Mucosa	stomach
42	chr1:151280800-151283600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:151281000-151283600	Weak transcription	Gastric	stomach
44	chr1:151281000-151286600	Weak transcription	Pancreas	Pancrea
45	chr1:151281000-151287400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr1:151281200-151283400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:151281200-151286200	Genic enhancers	Colon Smooth Muscle	Colon
48	chr1:151281400-151283600	Weak transcription	Aorta	Aorta
49	chr1:151281400-151283600	Weak transcription	Esophagus	oesophagus
50	chr1:151281400-151283600	Weak transcription	Fetal Kidney	kidney

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